Purine Nucleoside Phosphorylase Deficiency

Description

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

Clinical Features

Top most frequent phenotypes and symptoms related to Purine Nucleoside Phosphorylase Deficiency

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia
  • Spasticity
  • Delayed speech and language development
  • Motor delay
  • Tremor
  • Behavioral abnormality

And another 31 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Purine Nucleoside Phosphorylase Deficiency Is also known as pnp deficiency, pnpase deficiency, nucleoside phosphorylase deficiency.

Researches and researchers

Doctors, researchs, and experts related to Purine Nucleoside Phosphorylase Deficiency extracted from public data.

Purine Nucleoside Phosphorylase Deficiency Experts map



Current Researchs and researchers

  • FREIBURG — Pr Stephan EHL

    Coordinator of expert centre - Clinical expert - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Universitätsklinikum Freiburg
      — CCI am Universitätsklinikum Freiburg
    • Research area/topic::

      A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)


  • FREIBURG — Dr Carsten SPECKMANN

    Clinical expert - Investigator of research project

    • Institution/s:
      — Universitätsklinikum Freiburg
      — CCI am Universitätsklinikum Freiburg
    • Research area/topic::

      A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)



Mendelian

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Purine Nucleoside Phosphorylase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PNP Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PNP
Specificity
100 %
Genes
100 %
PNP Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PNP
Specificity
100 %
Genes
100 %
PNP Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PNP
Specificity
100 %
Genes
100 %
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, STAT5B, STIM1, TBX1, FOXN1, ZAP70, CD3D, CD3E, DCLRE1C, ADA, NHEJ1, ORAI1, IL2RG, IL7R, JAK3, LIG4, PNP, PTPRC, RAG1, RAG2
Specificity
5 %
Genes
100 %
PNP Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

PNP
Specificity
100 %
Genes
100 %
Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, STAT5B, STIM1, TBX1, FOXN1, ZAP70, CD3D, CD3E, ADA, NHEJ1, ORAI1, IL2RG, IL7R, JAK3, LIG4, PNP, PTPRC, RAG1, RAG2
Specificity
6 %
Genes
100 %
PNP Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

PNP
Specificity
100 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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